Varaico: Literature-Extracted Genetic Variants

ACVR1

792 papers

RefSeq Summary

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a...

Pfam Domains

Activin_recpaa 32–106UCSCActivin types I and II receptor domain

TGF_beta_GSaa 179–206UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 208–495UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

activin A receptor type 1

HGNC Previous Symbol

ACVRLK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001111067.4

p.I352L

c.1054A>C

Surrounding Variants

2 papers

NM_001111067.4

p.I352V

c.1054A>G

1 paper

NM_001111067.4

p.A353T

c.1057G>A

1 paper

NM_001111067.4

p.C350*

c.1050T>A

1 paper

NM_001111067.4

p.Q349E

c.1045C>G

1 paper

NM_001111067.4

p.L355F

c.1065G>T

1 paper

NM_001111067.4

p.L355F

c.1065G>C

1 paper

NM_001111067.4

p.L355delFs

c.1063delA

1 paper

NM_001111067.4

p.G356S

c.1066G>A

1 paper

NM_001111067.4

p.G348R

c.1042G>A

1 paper

NM_001111067.4

p.N347K

c.1041T>G

1 paper

NM_001111067.4

p.N347K

c.1041T>A

1 paper

NM_001111067.4

p.K345_K346del2

c.1033_1037del6